Special

HsaEX6080105 @ hg19

Exon Skipping

Gene
ENSG00000120903 | CHRNA2
Description
cholinergic receptor, nicotinic, alpha 2 (neuronal) [Source:HGNC Symbol;Acc:1956]
Coordinates
chr8:27327278-27337400:-
Coord C1 exon
chr8:27337286-27337400
Coord A exon
chr8:27328503-27328711
Coord C2 exon
chr8:27327278-27327498
Length
209 bp
Sequences
Splice sites
3' ss Seq
CCTTTCTTGGGCTTGCTCAGGTT
3' ss Score
6.75
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GTTAATAGATGGGGTGATGTCAAGATCACAGTGGGCCAGGATTCGCCATGCACAGGAGGAGACAGGAGTACTCATCTGATACTAGAGAAAAGGAGGCTTCACCGGAAAATCAAAG
Seq A exon
GTTCGGTGGTGAGAGGAAGCCTCGCAGAATCCAGCAGAATCCTCACAGAATCCAGCAGCAGCTCTGCTGGGGACATGGTCCATGGTGCAACCCACAGCAAAGCCCTGACCTGACCTCCTGATGCTCAGGAGAAGCCATGGGCCCCTCCTGTCCTGTGTTCCTGTCCTTCACAAAGCTCAGCCTGTGGTGGCTCCTTCTGACCCCAGCAG
Seq C2 exon
GTGGAGAGGAAGCTAAGCGCCCACCTCCCAGGGCTCCTGGAGACCCACTCTCCTCTCCCAGTCCCACGGCATTGCCGCAGGGAGGCTCGCATACCGAGACTGAGGACCGGCTCTTCAAACACCTCTTCCGGGGCTACAACCGCTGGGCGCGCCCGGTGCCCAACACTTCAGACGTGGTGATTGTGCGCTTTGGACTGTCCATCGCTCAGCTCATCGATGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120903-'0-13,'0-10,5-13=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. ATG (>10 exons))

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.000 C2=0.429
Domain overlap (PFAM):

C1:
NA
A:
PF0315410=Atrophin-1=PU(5.4=12.0)
C2:
PF0315410=Atrophin-1=PD(93.2=74.3),PF0293118=Neur_chan_LBD=PU(18.8=52.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAAGATCACAGTGGGCCAG
R:
ACAGTCCAAAGCGCACAATCA
Band lengths:
295-504
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains